2023
The EN-TEx resource of multi-tissue personal epigenomes & variant-impact models
Rozowsky J, Gao J, Borsari B, Yang Y, Galeev T, Gürsoy G, Epstein C, Xiong K, Xu J, Li T, Liu J, Yu K, Berthel A, Chen Z, Navarro F, Sun M, Wright J, Chang J, Cameron C, Shoresh N, Gaskell E, Drenkow J, Adrian J, Aganezov S, Aguet F, Balderrama-Gutierrez G, Banskota S, Corona G, Chee S, Chhetri S, Cortez Martins G, Danyko C, Davis C, Farid D, Farrell N, Gabdank I, Gofin Y, Gorkin D, Gu M, Hecht V, Hitz B, Issner R, Jiang Y, Kirsche M, Kong X, Lam B, Li S, Li B, Li X, Lin K, Luo R, Mackiewicz M, Meng R, Moore J, Mudge J, Nelson N, Nusbaum C, Popov I, Pratt H, Qiu Y, Ramakrishnan S, Raymond J, Salichos L, Scavelli A, Schreiber J, Sedlazeck F, See L, Sherman R, Shi X, Shi M, Sloan C, Strattan J, Tan Z, Tanaka F, Vlasova A, Wang J, Werner J, Williams B, Xu M, Yan C, Yu L, Zaleski C, Zhang J, Ardlie K, Cherry J, Mendenhall E, Noble W, Weng Z, Levine M, Dobin A, Wold B, Mortazavi A, Ren B, Gillis J, Myers R, Snyder M, Choudhary J, Milosavljevic A, Schatz M, Bernstein B, Guigó R, Gingeras T, Gerstein M. The EN-TEx resource of multi-tissue personal epigenomes & variant-impact models. Cell 2023, 186: 1493-1511.e40. PMID: 37001506, PMCID: PMC10074325, DOI: 10.1016/j.cell.2023.02.018.Peer-Reviewed Original Research
2022
The Human Pangenome Project: a global resource to map genomic diversity
Wang T, Antonacci-Fulton L, Howe K, Lawson HA, Lucas JK, Phillippy AM, Popejoy AB, Asri M, Carson C, Chaisson MJP, Chang X, Cook-Deegan R, Felsenfeld AL, Fulton RS, Garrison EP, Garrison N, Graves-Lindsay TA, Ji H, Kenny EE, Koenig BA, Li D, Marschall T, McMichael JF, Novak AM, Purushotham D, Schneider VA, Schultz BI, Smith MW, Sofia HJ, Weissman T, Flicek P, Li H, Miga KH, Paten B, Jarvis ED, Hall IM, Eichler EE, Haussler D. The Human Pangenome Project: a global resource to map genomic diversity. Nature 2022, 604: 437-446. PMID: 35444317, PMCID: PMC9402379, DOI: 10.1038/s41586-022-04601-8.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsHuman reference genomeReference genomeGenomic diversityGenomic variationHuman genomic variationGlobal genomic diversitySingle nucleotide variantsGene-disease associationsDiploid genomeGenetic resourcesGenomeGenomic researchFuture biomedical researchHigh-quality referenceStructural variantsHuman geneticsRoutine assemblyCommon variantsFunctional elementsPolymorphic regionDiversityBiomedical researchVariantsMajor updateGeneticsHaplotype-resolved assembly of diploid genomes without parental data
Cheng H, Jarvis E, Fedrigo O, Koepfli K, Urban L, Gemmell N, Li H. Haplotype-resolved assembly of diploid genomes without parental data. Nature Biotechnology 2022, 40: 1332-1335. PMID: 35332338, PMCID: PMC9464699, DOI: 10.1038/s41587-022-01261-x.Peer-Reviewed Original Research
2021
Obtaining Xenopus tropicalis Eggs.
Lane M, Mis EK, Khokha MK. Obtaining Xenopus tropicalis Eggs. Cold Spring Harbor Protocols 2021, 2022: pdb.prot106344. PMID: 34031209, DOI: 10.1101/pdb.prot106344.Peer-Reviewed Original ResearchConceptsDevelopmental biologyGene manipulation toolsPowerful model systemCell biological studiesCell-free systemTetraploid genomeDiploid genomeThousands of eggsEgg extractsGenetic studiesXenopusGenomePremier systemModel systemEggsBiological studiesBiologyEmbryosFrogsManipulation toolsTiming of stepsSpeciesHormoneFemalesCellsIncreased numbers of nucleoli in a genome-wide RNAi screen reveal proteins that link the cell cycle to RNA polymerase I transcription
Ogawa LM, Buhagiar AF, Abriola L, Leland BA, Surovtseva YV, Baserga SJ. Increased numbers of nucleoli in a genome-wide RNAi screen reveal proteins that link the cell cycle to RNA polymerase I transcription. Molecular Biology Of The Cell 2021, 32: 956-973. PMID: 33689394, PMCID: PMC8108525, DOI: 10.1091/mbc.e20-10-0670.Peer-Reviewed Original ResearchConceptsRNA polymerase INumber of nucleoliRibosome biogenesisNucleolar organizer regionsPolymerase ICell cycleRNA polymerase I transcriptionPolymerase I transcriptionCell cycle regulationHigh-throughput quantitative imagingHuman diploid genomeIdentification of proteinsEukaryotic cellsG2/M phaseDiploid genomeNuclear condensatesRibosomal DNACycle regulationHuman breast epithelial cell lineBreast epithelial cell lineI transcriptionNovel regulatorEpithelial cell lineCycle progressionFunctional analysis
2014
Analysis for co-occurring sequence features identifies link between common synonymous variant and an early-terminated NPC1 isoform
Movassagh M, Mudvari P, Kokkinaki M, Edwards N, Golestaneh N, Horvath A. Analysis for co-occurring sequence features identifies link between common synonymous variant and an early-terminated NPC1 isoform. Journal Of Clinical Bioinformatics 2014, 4: 14. DOI: 10.1186/2043-9113-4-14.Peer-Reviewed Original ResearchRetinal pigment epitheliumNPC1 proteinLow-grade brain tumorsVariant nucleotidesFunctional NPC1 proteinTranscriptome-wide searchParallel sequencing technologiesCommon synonymous variantSingle sequencing readExon-intron boundariesDiploid genomeAllelic phaseAlternative splicingHuman transcriptomeSynonymous substitutionsBreast cancerCellular phenotypesBrain tumorsSequencing technologiesPigment epitheliumColon cancerAutosomal recessive mannerCholesterol traffickingRetinal degenerationRNA features
2012
Genetics of germ cell development
Lesch BJ, Page DC. Genetics of germ cell development. Nature Reviews Genetics 2012, 13: 781-794. PMID: 23044825, DOI: 10.1038/nrg3294.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsGerm cell developmentGerm cellsHaploid genomeMultiple speciesCell developmentPluripotent stem cell systemsRepressive chromatin configurationGerm cell identityRNA polymerase IIGerm cell biologyStem cell systemEarly germ cellsPolymerase IICell identityDiploid genomeChromatin configurationIndividual organismsCell biologyMitotic proliferationGenomeSame speciesDifferent speciesGermline precursorsLater stepsMeiosis
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